一颗粒状角膜营养不良家系BIGH3基因突变的研究

发布时间：2018-03-06 01:14

  本文选题：角膜营养不良　切入点：基因突变　出处：《安徽医科大学学报》2014年07期 　论文类型：期刊论文

【摘要】：目的对一颗粒状角膜营养不良(GCD)家系进行BIGH3基因突变筛查,以确定其致病基因。方法收集一常染色体显性遗传的GCD家系,提取该家系患者及正常者的DNA,通过聚合酶链式反应(PCR)扩增BIGH3基因的目的片段,纯化后直接测序,用DNAStar软件分析测序结果,检测其BIGH3基因突变的类型。结果该家系患者均检测出第4外显子的R124H突变(CGCCAC),而家系中的正常者及50例正常对照者的BIGH3基因中均未发现该突变。家系成员都检测出第11、12外显子的同义单核苷酸多态性(SNP)。通过基因检测,确定该家系角膜营养不良的分型,即为GCDⅡ型,又称Avellino角膜营养不良(ACD)。结论 BIGH3基因突变导致了该家系角膜营养不良患者的角膜病变,突变类型为R124H杂合突变。
[Abstract]:Objective to screen the mutation of BIGH3 gene in a family with granular corneal dystrophy. Methods an autosomal dominant GCD family was collected. The target fragment of BIGH3 gene was amplified by polymerase chain reaction (PCR) and sequenced directly. The results were analyzed by DNAStar software. Results the R124H mutation of exon 4 was detected in all the patients, but no mutation was found in the BIGH3 gene of the normal pedigree and 50 normal controls. The synonymous single nucleotide polymorphisms of exon 1112 were detected by genetic analysis. The type of corneal dystrophy in this pedigree was identified as GCD 鈪，

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